ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5678+4C>T (rs5744973)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492680 SCV000581379 benign Hereditary cancer-predisposing syndrome 2015-11-27 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421827 SCV000511494 benign not provided 2017-01-11 criteria provided, single submitter clinical testing
Counsyl RCV000206193 SCV000488661 benign Colorectal cancer, susceptibility to, 12 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000426565 SCV000518911 benign not specified 2016-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000421827 SCV000698679 benign not provided 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The POLE c.5678+4C>T variant involves the alteration of a non-conserved nucleotide located in an intronic position outside of the canonical slice sites. Mutation taster predicts a benign outcome for this variant along with 4/5 in silico splice site tools predicting the variant not to have an impact on splicing. This variant was found in 550/121298 control chromosomes (16 homozygotes), predominantly observed in the African, 16 homozygotes subpopulation at a frequency of 0.0479531 (499/10406). This frequency is about 3376 times the estimated maximal expected allele frequency of a pathogenic POLE variant (0.0000142), suggesting this is likely a benign polymorphism found primarily in the populations of African. In addition a clinical diagnostic laboratory classified this variant as Benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Benign.
Invitae RCV000206193 SCV000262289 benign Colorectal cancer, susceptibility to, 12 2018-01-17 criteria provided, single submitter clinical testing
PreventionGenetics RCV000426565 SCV000806816 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000426565 SCV000602074 benign not specified 2016-09-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000421827 SCV000889773 benign not provided 2016-09-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000492680 SCV000788186 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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